FaCD Online Syndrome Fact Sheet

Last updated: 16 Sep 2009

Name: Hyperplastic Polyposis Syndrome

Synonym: HPS, HPPS, Hyperplastic Polyposis, HPP

Mode of Inheritance: spor/ de novo?

Tumor features

colorectal cancer
colorectal hyperplastic polyps
colorectal polyps
rectal cancer


The presence of numerous colorectal hyperplastic polyps is referred to as hyperplastic polyposis. It is an uncommon condition, reported virtually always as non-familial cases in adults, associated with colorectal cancer. Keljo et al.[1] reported an 11-year-old girl with more than 100 colonic hyperplastic polyps and rectal cancer, which is suggestive of an underlying genetic predisposition. Her family history was negative. Bengoechea et al.[2] reported on a 24-year-old male with 28 hyperplastic polyps (2 with adenomatous foci) and an adenocarcinoma of the right colon. Family history was negative. In general, hyperplastic polyposis is now considered to predispose to colorectal cancer[3-5] and colorectal cancer risk in this syndrome appears to be positively associated with the number of serrated adenomas[9].

Jass and colleagues classified hyperplastic polyposis as a disorder which follows the molecular serrated adenoma-carcioma pathway, with multiple serrated polyps as the cancer precursos lesion and "recessive" rather than "dominant" familial clustering[7,8].

Analysis of hyperplastic polyposis cases suggests that there are at least two subgroups at the molecular level, one following the BRAF, "serrated", pathway and the other the KRAS2 pathway[6]. Hyperplastic polyposis as reported in the literature is clearly a heterogenous group with changing insights in the pathological classification of what constitutes a hyperplastic polyp over time. Clinical subtypes show overlap: hyperplastic-adenomatous polyposis syndrome, serrated adenomatous polyposis/serrated pathway syndrome (serrated adenomas may be misclassified as hyperplastic polyps!), mixed polyposis and familial giant hyperplastic polyposis. Whether all these types are genetically distinct remains to be clarified. Serrated adenomas and hyperplastic polyps have been reported in patients with bi-allelic MUTYH mutations.


[1] Keljo DJ, Weinberg AG, Winick N, Tomlinson G. Rectal cancer in an 11-year-old girl with hyperplastic polyposis. Journal of pediatric gastroenterology and nutrition 1999; 28(3):327-32.
[2] Bengoechea O, Martinez-Penuela JM, Larrinaga B, Valerdi J, Borda F. Hyperplastic polyposis of the colorectum and adenocarcinoma in a 24-year-old man. Am J Surg Pathol 1987; 11(4):323-327.
[3] Kurobe M, Abe K, Kinoshita N, Anami M, Tokai H, Ryu Y, Wen CY, Kanematsu T, Hayashi T. Hyperplastic polyposis associated with two asynchronous colon cancers. World journal of gastroenterology : WJG 2007; 13(23):3255-8.
[4] Leggett BA, Devereaux B, Biden K, Searle J, Young J, Jass J. Hyperplastic polyposis: association with colorectal cancer. The American journal of surgical pathology 2001; 25(2):177-84.
[5] O'Brien MJ. Hyperplastic and serrated polyps of the colorectum. Gastroenterology clinics of North America 2007; 36(4):947-68, viii.
[6] Carvajal-Carmona LG, Howarth KM, Lockett M, Polanco-Echeverry GM, Volikos E, Gorman M, Barclay E, Martin L, Jones AM, Saunders B, Guenther T, Donaldson A, Paterson J, Frayling I, Novelli MR, Phillips R, Thomas HJ, Silver A, Atkin W, Tomlinson IP. Molecular classification and genetic pathways in hyperplastic polyposis syndrome. The Journal of pathology 2007; 212(4):378-85.
[7] Young J, Jass JR. The case for a genetic predisposition to serrated neoplasia in the colorectum: hypothesis and review of the literature. Cancer epidemiology, biomarkers & prevention 2006; 15(10):1778-84.
[8] Jass JR. Colorectal polyposes: From phenotype to diagnosis. Pathology, research and practice 2008; .
[9] Boparai KS, Mathus-Vliegen EM, Koornstra JJ, Nagengast FM, van Leerdam M, van Noesel CJ, Houben M, Cats A, van Hest LP, Fockens P, Dekker E. Increased colorectal cancer risk during follow-up in patients with hyperplastic polyposis syndrome: a multicentre cohort study. Gut. 2009 Aug 25. [Epub ahead of print]